Canonical Allele Identifier: PA2828472065
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 801781
ClinVar RCV Id: RCV000986857
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Ser1222Arg
CA349026438
NM_001371246.1:c.3664A>C
CA349026450
NM_001371246.1:c.3666T>G
CA349026451
NM_001371246.1:c.3666T>A